Muscle, skeletal receptor tyrosine-protein kinase
Details
- Name
- Muscle, skeletal receptor tyrosine-protein kinase
- Synonyms
- 2.7.10.1
- Muscle-specific kinase receptor
- Muscle-specific tyrosine-protein kinase receptor
- MuSK
- Gene Name
- MUSK
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0051860|Muscle, skeletal receptor tyrosine-protein kinase MRELVNIPLVHILTLVAFSGTEKLPKAPVITTPLETVDALVEEVATFMCAVESYPQPEIS WTRNKILIKLFDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMK PKITRPPINVKIIEGLKAVLPCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNV QKEDAGQYRCVAKNSLGTAYSKVVKLEVEVFARILRAPESHNVTFGSFVTLHCTATGIPV PTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLYTCIATNKHGEKFSTAKAAAT ISIAEWSKPQKDNKGYCAQYRGEVCNAVLAKDALVFLNTSYADPEEAQELLVHTAWNELK VVSPVCRPAAEALLCNHIFQECSPGVVPTPIPICREYCLAVKELFCAKEWLVMEEKTHRG LYRSEMHLLSVPECSKLPSMHWDPTACARLPHLDYNKENLKTFPPMTSSKPSVDIPNLPS SSSSSFSVSPTYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLP SELLLDRLHPNPMYQRMPLLLNPKLLSLEYPRNNIEYVRDIGEGAFGRVFQARAPGLLPY EPFTMVAVKMLKEEASADMQADFQREAALMAEFDNPNIVKLLGVCAVGKPMCLLFEYMAY GDLNEFLRSMSPHTVCSLSHSDLSMRAQVSSPGPPPLSCAEQLCIARQVAAGMAYLSERK FVHRDLATRNCLVGENMVVKIADFGLSRNIYSADYYKANENDAIPIRWMPPESIFYNRYT TESDVWAYGVVLWEIFSYGLQPYYGMAHEEVIYYVRDGNILSCPENCPVELYNLMRLCWS KLPADRPSFTSIHRILERMCERAEGTVSV
- Number of residues
- 869
- Molecular Weight
- 97055.3
- Theoretical pI
- Not Available
- GO Classification
- FunctionsATP binding / metal ion binding / protein tyrosine kinase activity / transmembrane receptor protein tyrosine kinase activityProcessescell differentiation / memory / multicellular organism development / neuromuscular junction development / positive regulation of gene expression / positive regulation of protein geranylgeranylation / positive regulation of protein phosphorylation / protein autophosphorylation / regulation of synaptic growth at neuromuscular junction / skeletal muscle acetylcholine-gated channel clustering / transmembrane receptor protein tyrosine kinase signaling pathwayComponentscell junction / integral component of plasma membrane / neuromuscular junction / postsynaptic membrane / receptor complex
- General Function
- Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle (PubMed:25537362). Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation (By similarity).
- Specific Function
- Atp binding
- Pfam Domain Function
- Transmembrane Regions
- 496-516
- Cellular Location
- Cell junction
- Gene sequence
>lcl|BSEQ0051861|Muscle, skeletal receptor tyrosine-protein kinase (MUSK) ATGAGAGAGCTCGTCAACATTCCACTGGTACATATTCTTACTCTGGTTGCCTTCAGCGGA ACTGAGAAACTTCCAAAAGCTCCTGTCATCACCACTCCTCTTGAAACAGTGGATGCCTTA GTTGAAGAAGTGGCTACTTTCATGTGTGCAGTGGAATCCTACCCCCAGCCTGAGATTTCC TGGACTAGAAATAAAATTCTCATTAAACTCTTTGACACCCGGTACAGCATCCGGGAGAAT GGGCAGCTCCTCACCATCCTGAGTGTGGAAGACAGTGATGATGGCATTTACTGCTGCACG GCCAACAATGGTGTGGGAGGAGCTGTGGAGAGTTGTGGAGCCCTGCAAGTGAAGATGAAA CCTAAAATAACTCGTCCTCCCATAAATGTGAAAATAATAGAGGGATTAAAAGCAGTCCTA CCATGTACTACAATGGGTAATCCCAAACCATCAGTGTCTTGGATAAAGGGAGACAGCCCT CTCAGGGAAAATTCCCGAATTGCAGTTCTTGAATCTGGGAGCTTGAGGATTCATAACGTA CAAAAGGAAGATGCAGGACAGTATCGATGTGTGGCAAAAAACAGCCTCGGGACAGCATAT TCCAAAGTGGTGAAGCTGGAAGTTGAGGTTTTTGCCAGGATCCTGCGGGCTCCTGAATCC CACAATGTCACCTTTGGCTCCTTTGTGACCCTGCACTGTACAGCAACAGGCATTCCTGTC CCCACCATCACCTGGATTGAAAACGGAAATGCTGTTTCTTCTGGGTCCATTCAAGAGAGT GTGAAAGACCGAGTGATTGACTCAAGACTGCAGCTGTTTATCACCAAGCCAGGACTCTAC ACATGCATAGCTACCAATAAGCATGGGGAGAAGTTCAGTACTGCCAAGGCTGCAGCCACC ATCAGCATAGCAGAATGGAGTAAACCACAGAAAGATAACAAAGGCTACTGCGCCCAGTAC AGAGGGGAGGTGTGTAATGCAGTCCTGGCAAAAGATGCTCTTGTTTTTCTCAACACCTCC TATGCGGACCCTGAGGAGGCCCAAGAGCTACTGGTCCACACGGCCTGGAATGAACTGAAA GTAGTGAGCCCAGTCTGCCGGCCAGCTGCTGAGGCTTTGTTGTGTAACCACATCTTCCAG GAGTGCAGTCCTGGAGTAGTGCCTACTCCTATTCCCATTTGCAGAGAGTACTGCTTGGCA GTAAAGGAGCTCTTCTGCGCAAAAGAATGGCTGGTAATGGAAGAGAAGACCCACAGAGGA CTCTACAGATCCGAGATGCATTTGCTGTCCGTGCCAGAATGCAGCAAGCTTCCCAGCATG CATTGGGACCCCACGGCCTGTGCCAGACTGCCACATCTAGATTATAACAAAGAAAACCTA AAAACATTCCCACCAATGACGTCCTCAAAGCCAAGTGTGGACATTCCAAATCTGCCTTCC TCCTCCTCTTCTTCCTTCTCTGTCTCACCTACATACTCCATGACTGTAATAATCTCCATC ATGTCCAGCTTTGCAATATTTGTGCTTCTTACCATAACTACTCTCTATTGCTGCCGAAGA AGAAAACAATGGAAAAATAAGAAAAGAGAATCAGCAGCAGTAACCCTCACCACACTGCCT TCTGAGCTCTTACTAGATAGACTTCATCCCAACCCCATGTACCAGAGGATGCCGCTCCTT CTGAACCCCAAATTGCTCAGCCTGGAGTATCCAAGGAATAACATTGAATATGTGAGAGAC ATCGGAGAGGGAGCGTTTGGAAGGGTGTTTCAAGCAAGGGCACCAGGCTTACTTCCCTAT GAACCTTTCACTATGGTGGCAGTAAAGATGCTCAAAGAAGAAGCCTCGGCAGATATGCAA GCGGACTTTCAGAGGGAGGCAGCCCTCATGGCAGAATTTGACAACCCTAACATTGTGAAG CTATTAGGAGTGTGTGCTGTCGGGAAGCCAATGTGCCTGCTCTTTGAATACATGGCCTAT GGTGACCTCAATGAGTTCCTCCGCAGCATGTCCCCTCACACCGTGTGCAGCCTCAGTCAC AGTGACTTGTCTATGAGGGCTCAGGTCTCCAGCCCTGGGCCCCCACCCCTCTCCTGTGCT GAGCAGCTTTGCATTGCCAGGCAGGTGGCAGCTGGCATGGCTTACCTCTCAGAACGTAAG TTTGTTCACCGAGATTTAGCCACCAGGAACTGCCTGGTGGGCGAGAACATGGTGGTGAAA ATTGCCGACTTTGGCCTCTCCAGGAACATCTACTCAGCAGACTACTACAAAGCTAATGAA AACGACGCTATCCCTATCCGTTGGATGCCACCAGAGTCCATTTTTTATAACCGCTACACT ACAGAGTCTGATGTGTGGGCCTATGGCGTGGTCCTCTGGGAGATCTTCTCCTATGGCCTG CAGCCCTACTATGGGATGGCCCATGAGGAGGTCATTTACTACGTGCGAGATGGCAACATC CTCTCCTGCCCTGAGAACTGCCCCGTGGAGCTGTACAATCTCATGCGTCTATGTTGGAGC AAGCTGCCTGCAGACAGACCCAGTTTCACCAGTATTCACCGAATTCTGGAACGCATGTGT GAGAGGGCAGAGGGAACTGTGAGTGTCTAA
- Chromosome Location
- 9
- Locus
- 9q31.3
- External Identifiers
Resource Link UniProtKB ID O15146 UniProtKB Entry Name MUSK_HUMAN HGNC ID HGNC:7525 - General References
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